The Journal of Obstetrics and Gynecology of India (December 2012) 62(S1):S78S80
DOI 10.1007/s13224-013-0387-1
CASE REPORT
A Success Story in Congenital Adrenal Hyperplasia
Kriplani Alka Lunkad Amol Agarwal Nutan
Kulshreshtha Bindu Ariachery C. Aminni
Received: 10 February 2011 / Accepted: 19 June 2012 / Published online: 14 March 2013
Federation of Obstetric & Gynecological Societies of India 2013
Abstract Congenital adrenal hyperplasia (CAH) is a
group of autosomal recessive disorders characterized by
enzyme defects in adrenal steroidogenic pathways. CAH
due to 21-hydroxylase deficiency accounts for 95 % of
cases. This case was diagnosed to have simple virilizing
type of CAH and started on dexamethasone, and underwent
genitoplasty and clitoroplasty at 25 years of age, then was
married 3 years after surgery and conceived spontaneously
2 years after marriage, to deliver a healthy male baby.
Thus, proper diagnosis and treatment with steroids and
genitoplasty can give females with CAH a normal sexual,
normal menstrual, and reproductive function.
Kriplani A. (&), Professor and Unit head

Lunkad A., Senior resident
Agarwal N., Associate Professor
Department of Obstetrics & Gynaecology, All India Institute
of Medical Sciences, Room No. 3081, Teaching Block, Ansari
Nagar (E), New-Delhi 110029, India
e-mail: kriplanialka@gmail.com
Kulshreshtha B., Assistant Professor

Ariachery C. A., Professor and Head
Department of Endocrinology, All India Institute of Medical
Sciences, New-Delhi, India
Present Address:
Kulshreshtha B., Assistant Professor
Ram Manohar Lohia Hospital, New-Delhi, India
Introduction
Congenital adrenal hyperplasia (CAH) refers to a group of
monogenic-inherited autosomal recessive disorders char-
acterized by enzyme defects in adrenal steroidogenic
pathways. Incidence varies according to the race, but is
around 1 in 1015 thousand live births [1]. It is the most
common cause of sexual ambiguity at birth. CAH is clin-
ically divided into classic CAH that includes salt wasting
(SW), simple virilizing (SV), and non-classic (NC) dis-
ease. All three types are highly correlated with the spec-
trum of 21-hydroxylase mutations and to the severity of
the disease. Fertility is reduced by various factors in
patients with CAH. This case highlights that proper treat-
ment of these females with steroids and surgery if required
can give them normal sexual, menstrual, and reproductive
function.
Case Report
A 24-year-old unmarried female presented with clitoro-
megaly since birth, oligomenorrhea, and excessive hair on
face and thigh since she was 16 years of age. There was no
history of any hormonal intake, no history of abdominal
mass, or no history suggestive of any salt-wasting crisis.
There was no history of any medical or surgical illness. She
had attained menarche at 16 years of age and had irregular
scanty menses since then, with menses lasting for 2 days
recurring every 24 months, with no dysmenorrheal. On an
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The Journal of Obstetrics and Gynecology of India (December 2012) 62(S1):S78S80
average, she had four menstrual cycles per year. In her
family history, she had three sisters (2 elder and 1 younger)
and one brother. One of her elder sisters had similar illness
and had undergone genitoplasty and vaginoplasty which
had failed, and therefore later her younger sister who was
normal was married to the elder sisters husband. No other
family member is affected by similar illness. She was born
of non-consanguinous parentage. She was educated till the
tenth standard and was working as a security guard.
On examination, her height was 144 cm, weight 49 kg
(BMI 23.6), and she had masculine built. She had breast
tanner II, pubic hairtanner V. Her Ferriman Gallway
score for hirsutism was 16. On local examination, she had
clitoromegaly with clitoral length of 5 cm, clitoral index
750 mm [2]. Her labia were underdeveloped, and the labial
skin was more like the scrotal skin. Labial fusion with
single common opening of urethra and vaginaPrader
stage IV (Fig. 1).
On ultrasound pelvis, she had normal uterus with
bilateral polycystic ovaries. Her karyotype was 46XX. On
hormonal profile, her 17-OHP was markedly raised
([20 ng/ml), both free testosterone and DHEAS were
raised into the male range. Basal cortisol was low, while
other hormonal parameters were normal. On MRI of
abdomen and pelvis, her bilateral adrenal glands were
hypertrophied, with normal uterus and normal bilateral
adnexa, clitoromegaly, and no ectopic testicular tissue.
Thus, a diagnosis of congenital adrenal hyperplasia of
simple virilizing type was made. Patient was started on
dexamethasone 0.25 mg once daily and was planned for
genitoplasty and clitoroplasty surgery. She was operated on
Jan 15, 2005, an inverted U-shaped incision was given, and
labia were reconstructed; nerve sparing clitoroplasty was
also done to give her normal looking female genitalia
(Fig. 2). She started having normal menses after starting
treatment. She married 3 years later and had normal sexual
life. She conceived spontaneously 2 years after marriage.
Fig. 1 Photograph showing the external genitalia of the patient
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Congenital Adrenal Hyperplasia
Fig. 2 Photograph showing the genitalia of the patient 3 months post
surgery
She followed up regularly in the high-risk antenatal
clinic and continued with dexamethasone 0.5 mg alternate
day throughout pregnancy. She was diagnosed with
impaired glucose tolerance and placenta previa type Ia at
32 weeks and was admitted. She underwent emergency
LSCS at 35 weeks for preterm premature rupture of
membranes with transverse lie. In the peri-LSCS period she
was given hydrocortisone 100 mg intravenously 8 hourly.
She delivered a 1.9 kg male baby with an apgar score of
9/9 at 1 and 5 min. Her postoperative course was
uneventful. Baby had no gross anomalies and had normal
17-OHP level at day 3 of life. She had normal lactation.
Discussion
CAH has a wide spectrum of clinical severity depending
upon the enzyme deficiency and the residual enzyme
activity. Females with classic CAH, whether SV or SW
type presents as ambiguous genitalia at birth, while the NC
type presents later in life with primary amenorrhea, men-
strual irregularities, hirsutism, and virilization. Diagnosis
of CAH can be done prenatally by villous sampling or
amniocentesis for mutational study or by amniotic fluid
levels of 17-OHP. Prenatal diagnosis is especially impor-
tant if both parents had carrier; previous affected child has
limited role if the mother herself is affected and in steroid
treatment. Diagnosis at birth is done by 17-OHP levels at
day 3 of birth. In children and adults, the diagnosis is based
on hormonal levels of 17-OHP, testosterone, DHEAS,
androstenedione, cortisol, and plasma rennin activity.
Treatment of SW type of CAH consists of glucocorticoids,
mineralocorticoid (fludrocortisone) and genitoplasty, while
the treatment of SW type of CAH consists of glucocorti-
coids and genitoplasty. Fertility is reduced in females of
CAH because of various reasons like psychosexual
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Kriplani et al. The Journal of Obstetrics and Gynecology of India (December 2012) 62(S1):S78S80
problems, decreased heterosexual activity, inadequate
vaginal introitus, coital difficulties, chronic oligo-anovu-
lation, secondary PCOS, and luteal phase defect. Fertility is
also reduced in males with CAH because of testicular
adrenal rest tumors causing oigospermia and leydig cell
failure. Various studies have shown a fertility rate of
1015 % in SW type, 3560 % in SV type, and 6590 % in
the NC type of CAH patients [2]. This case also shows that
late initiation of steroid therapy does not affect fertility as
has been seen in other studies [3, 4]. Studies have shown
that proper treatment results in spontaneous conception in
patients with CAH. It has also been seen that females with
CAH give birth to more girls (altered sex ratio seen)66
females:34 boysthe exact reasons for this is not known
[3, 4].
Conclusion
In utero and lifetime hormonal imbalances lead to
multiple clinical challenges of CAH which requires a
80
multidisciplinary approach, but proper diagnosis and
treatment can enable these females to have a normal sex-
ual, normal menstrual, and reproductive life.
References
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3. Hagenfeldt K, Janson PO, Holmdahl G, et al. Fertility and
pregnancy outcome in women with congenital adrenal hyperplasia
due to 21-hydroxylase deficiency. Hum Reprod. 2008;23(7):
160713.
4. Kulshreshtha B, Marumudi E, Khurana M, et al. Fertility among
women with classical congenital adrenal hyperplasia: Report of
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